PDF(Pubmed)
Abstract：
With advances in gene-based therapies for heritable retinal diseases, primary eye care clinicians should be informed on ocular genetics topics. This cross-sectional survey evaluated knowledge, attitudes, and concerns regarding genetic testing and gene therapy for retinal diseases among optometrists in Australia and New Zealand. Survey data included practitioner background, attitudes and practices towards genetic testing for monogenic inherited retinal disease (IRDs) and age-related macular degeneration, and knowledge of ocular genetics and gene therapy. Responses were received from 516 optometrists between 1 April and 31 December 2022. Key perceived barriers to accessing genetic testing were lack of clarity on referral pathways (81%), cost (65%), and lack of treatment options if a genetic cause is identified (50%). Almost all respondents (98%) believed that ophthalmologists should initiate genetic testing for IRDs and fewer understood the role of genetic counsellors and clinical geneticists. This study found that optometrists in Australia and New Zealand have a high level of interest in ocular genetics topics. However, knowledge gaps include referral pathways and awareness of genetic testing and gene therapy outcomes. Addressing perceived barriers to access and promoting sharing of knowledge between interdisciplinary networks can set the foundation for genetic education agendas in primary eye care.
摘要：
随着基因疗法治疗遗传性视网膜疾病的进展，初级眼保健临床医生应了解眼遗传学主题.这项横断面调查评估了知识，态度，以及澳大利亚和新西兰验光师对视网膜疾病的基因检测和基因治疗的担忧。调查数据包括从业者背景，对基因检测单基因遗传性视网膜疾病（IRD）和年龄相关性黄斑变性的态度和做法，以及眼遗传学和基因治疗的知识。在2022年4月1日至12月31日之间收到了516名验光师的答复。获得基因检测的主要障碍是转诊途径缺乏明确性(81%)，成本（65%），如果确定了遗传原因，则缺乏治疗选择（50％）。几乎所有受访者（98％）都认为眼科医生应该对IRD进行基因检测，而很少有人了解遗传咨询师和临床遗传学家的作用。这项研究发现，澳大利亚和新西兰的验光师对眼遗传学主题有很高的兴趣。然而,知识差距包括转诊途径和对基因检测和基因治疗结果的认识.解决感知到的获取障碍并促进跨学科网络之间的知识共享可以为初级眼科保健的遗传教育议程奠定基础。
